Canonical Allele Identifier: CA3228931

Gene: AGXT2

Linked Data

• dbSNP Id: rs377395519
• ExAC: 5:34998932 C / T
• gnomAD v2: 5-34998932-C-T
• gnomAD v4: 5-34998827-C-T
• MyVariant Identifiers: chr5:g.34998932C>T (hg19) ; chr5:g.34998827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998827C>T , CM000667.2:g.34998827C>T	GRCh38
NC_000005.9:g.34998932C>T , CM000667.1:g.34998932C>T	GRCh37
NC_000005.8:g.35034689C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-1G>A MANE Select	ENSP00000231420.6:n.1438-1G>A
ENST00000231420.10:c.1438-1G>A	ENSP00000231420.6:n.1438-1G>A
ENST00000510428.1:c.1213-1G>A	ENSP00000422799.1:n.1213-1G>A
ENST00000512135.5:n.1108-1G>A
ENST00000618015.4:c.1213-1G>A	ENSP00000479154.1:n.1213-1G>A
NM_001306173.1:c.1213-1G>A	NP_001293102.1:n.1213-1G>A
NM_031900.3:c.1438-1G>A	NP_114106.1:n.1438-1G>A
XM_005248337.2:c.1435-1G>A	XP_005248394.1:n.1435-1G>A
XM_005248338.2:c.1243-1G>A	XP_005248395.1:n.1243-1G>A
XM_011514077.1:c.1438-425G>A	XP_011512379.1:n.1438-425G>A
XM_005248337.3:c.1435-1G>A	XP_005248394.1:n.1435-1G>A
XM_005248338.3:c.1243-1G>A	XP_005248395.1:n.1243-1G>A
XM_017009748.2:c.1213-1G>A	XP_016865237.1:n.1213-1G>A
NM_031900.4:c.1438-1G>A MANE Select	NP_114106.1:n.1438-1G>A
NM_001306173.2:c.1213-1G>A	NP_001293102.1:n.1213-1G>A